InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GDF1

Summary

InnateDB Protein

IDBP-38955.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GDF1

Protein Name

growth differentiation factor 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000247005

InnateDB Gene

IDBG-38953 (GDF1)

Protein Structure

UniProt Annotation

Function

May mediate cell differentiation events during embryonic development.

Subcellular Localization

Secreted.

Disease Associations

Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. {ECO:0000269PubMed:17924340}. Note=The disease is caused by mutations affecting the gene represented in this entry.Transposition of the great arteries dextro-looped 3 (DTGA3) [MIM:613854]: A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries. {ECO:0000269PubMed:17924340}. Note=The disease is caused by mutations affecting the gene represented in this entry.Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. {ECO:0000269PubMed:17924340}. Note=The disease is caused by mutations affecting the gene represented in this entry.Right atrial isomerism (RAI) [MIM:208530]: A severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. {ECO:0000269PubMed:20413652}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the brain.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005125	cytokine activity
GO:0008083	growth factor activity

Biological Process

GO:0040007

growth

Cellular Component

GO:0005615

extracellular space

Protein Structure and Domains

PDB ID

InterPro

IPR001111 Transforming growth factor-beta, N-terminal
IPR001839 Transforming growth factor-beta, C-terminal
IPR002405 Inhibin, alpha subunit
IPR029034 Cystine-knot cytokine

PFAM

PF00688
PF00019

PRINTS

PR00669

PIRSF

SMART

SM00204

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt